RESUMO
Individuals with Rare Genetic Neurodevelopmental Disorders (RGND) present with significant sleep problems and circadian rhythm abnormalities of uncertain aetiology. Abnormal melatonin secretion may play a role in sleep disturbance in individuals with higher incidence developmental disabilities, however, RGND research is limited. This review compared the melatonin profiles in a range of RGND with that of the general population and considered the impact of any differences on sleep. A systematic search identified 19 studies that met inclusion criteria. Each study was examined to extract data relating to the study design, participant characteristics, objectives, sleep measures and results, and melatonin measures and findings. Studies were evaluated using the BIOCROSS quality appraisal tool. Nine studies focussed on Smith-Magenis syndrome (SMS), the rest included individuals with Angelman (AS), Fragile-X (FXS), Prader-Willi (PWS), septo-optic dysplasia, PAX6/WAGR and Williams (WS) syndromes (N = 349). Individuals with RGND present with a range of sleep problems, particularly dyssomnias. The melatonin profile varied within and between RGND, with low nocturnal melatonin levels commonly reported. Understanding the relationship between specific sleep and melatonin parameters within RGND may help inform sleep intervention.
Assuntos
Melatonina , Transtornos do Neurodesenvolvimento , Transtornos do Sono-Vigília , Síndrome de Smith-Magenis , Humanos , Transtornos do Neurodesenvolvimento/genética , Sono , Transtornos do Sono-Vigília/genéticaRESUMO
The variable expression of autism over the lifespan is likely to lead to different symptoms and support requirements, and to distinct responses to pharmacotherapy treatment, in older patients compared to children. This systematic review considers the effectiveness of pharmacological treatment in managing autism spectrum disorder in adolescents and adults. Following a comprehensive search of literature published in English from 1980, methodological criteria were applied to identify studies designed to reliably assess treatment effectiveness. Only five double-blind, randomized controlled trials were eligible for appraisal. All had small sample sizes (mean = 30) and brief treatment duration of no more than 12 weeks. The paucity of trials and their methodological limitations means that there is only preliminary evidence about the short-term effectiveness of a few drug treatments for this age group. There was also a lack of reliable data reported on drug safety profiles. Methodological challenges and directions for future research are discussed.